Background: Fanconi anemia (FA) is a chromosomal instability disorder with a very high risk of developing head and neck squamous cell carcinoma (HNSCC), most notably after hematopoietic stem cell transplantation (HSCT).
Methods: In the current study, the authors reported 13 cases of HNSCC in FA patients who underwent HSCT at the Saint Louis Hospital between 1976 and 2007.
Results: The median age of the patients at time of HSCT was 9.7 years. All patients received irradiation-based conditioning before HSCT and all developed extensive chronic graft versus host disease (GVHD). HNSCC was diagnosed at a median interval of 10 years after HSCT, mainly in numerous sites within the oral cavity (11 patients). Lymph node involvement was diagnosed in 4 patients. The TNM classification was: T1 in 6 patients, T2 in 2 patients, T3 in 2 patients, and T4 in 3 patients. Treatment was comprised of surgery in 10 patients, with clear surgical margins reported in 7 (including cervical lymph node dissection in 6 patients). Surgery was performed in addition to other treatments in only 2 patients (radiotherapy or cryotherapy). For the remaining 3 patients, treatment consisted in radiotherapy (2 patients) or chemotherapy (1 patient). Disease progression while receiving therapy was observed in 5 patients and 5 other patients developed disease recurrence between 3.5 and 23.7 months after treatment. Death occurred in 11 patients. At the time of last follow-up, only 2 patients were alive without any disease between 9 and 23 months after diagnosis.
Conclusions: HNSCC developing in FA patients after HSCT is associated with a very poor prognosis. A systematic surveillance of the oral cavity is essential to permit early surgery, which to the authors' knowledge remains the only curative treatment for a minority of patients. It is very important to attempt to prevent this cancer by reducing chronic GVHD and using conditioning without irradiation.